Newborn screening as a model for population screening
The incorporation of newborn screening into the states’ departments of public health represented the formal initiation of population-based predictive medi-cine with the goal of prevention of morbidityand mortalityfrom genetic disease. Starting with a meth-odologybased on microbiology, the bacteri...
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| Autores principales: | , |
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| Formato: | Artículo |
| Lenguaje: | Inglés |
| Publicado: |
Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas
2014
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| Materias: | |
| Acceso en línea: | http://repositorio.ub.edu.ar/handle/123456789/2872 |
| Aporte de: |
| Sumario: | The incorporation of newborn screening into the
states’ departments of public health represented the
formal initiation of population-based predictive medi-cine with the goal of prevention of morbidityand
mortalityfrom genetic disease. Starting with a meth-odologybased on microbiology, the bacterial inhibition
assay[1], the field has incorporated far more advanced
technologies such as molecular genetic analyses [2–7]
and tandem mass spectrometry(MS/MS) [8–12]. Pre-diction and prevention are fundamental to public health
and genomic medicine. Effective integration of screening
across the lifespan for genetic predisposition and disease
will require utilization of advanced technologies and
information systems, and incorporation of appropriate
safeguards to protect autonomy, privacy and confiden-tiality.
As newborn screening testing menus expand and
population-based genetic screening extends through
adulthood, pilot programs must be developed and
evaluated to determine their abilityto achieve the goals
and objectives for which theyare designed [13]. Such
pilot programs will require careful design, not onlyto
assess the technological bases of these systems, but also
to evaluate their impact on the individuals tested. De-termination of impact must include not onlytraditional
effectiveness measures such as changes in morbidityand
mortalityfrom disease, but also the ethical, legal and
social implications of testing such as genetic discrimi-nation [14–18].
Design and implementation of genetic screening
programs will require broad-based expertise. In addition
to the traditional membership on screening program
advisorycommittees, such as medical specialists and
subspecialists, laboratorians, and public health and
government officials, these groups must represent all
stakeholders [13]. Affected individuals and their family
members have the best-informed experience with the
process and consequences of screening, and theyshould
be incorporated as full and equal members. |
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